47 patients with FLNA associated periventricular nodular heterotopia

BACKGROUND: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psych...

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Bibliografische gegevens
Gepubliceerd in:Orphanet J Rare Dis
Hoofdauteurs: Lange, Max, Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K., Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard, Hehr, Ute
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2015
Onderwerpen:
Research
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4608144/
https://ncbi.nlm.nih.gov/pubmed/26471271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0331-9
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